Atlas of Genetics and Cytogenetics in Oncology and Haematology


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AHI1 (Abelson helper integration site 1)

Identity

Alias_namesAbelson helper integration site
Alias_symbol (synonym)FLJ20069
ORF1
JBTS3
Other aliasAHI-1
dJ71N10.1
HGNC (Hugo) AHI1
LocusID (NCBI) 54806
Atlas_Id 53090
Location 6q23.3  [Link to chromosome band 6q23]
Location_base_pair Starts at 135283972 and ends at 135497765 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AHI1 (6q23.3) / AHI1 (6q23.3)AHI1 (6q23.3) / C12orf50 (12q21.32)AHI1 (6q23.3) / CHEK2 (22q12.1)
AHI1 (6q23.3) / GLS (2q32.2)AHI1 (6q23.3) / MYB (6q23.3)MYB (6q23.3) / AHI1 (6q23.3)
AHI1 6q23.3 / C12orf50 12q21.32AHI1 6q23.3 / CHEK2 22q12.1AHI1 6q23.3 / MYB 6q23.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;7)(q23;q34) TRB/MYB and AHI1


External links

Nomenclature
HGNC (Hugo)AHI1   21575
Cards
Entrez_Gene (NCBI)AHI1  54806  Abelson helper integration site 1
AliasesAHI-1; JBTS3; ORF1; dJ71N10.1
GeneCards (Weizmann)AHI1
Ensembl hg19 (Hinxton)ENSG00000135541 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135541 [Gene_View]  chr6:135283972-135497765 [Contig_View]  AHI1 [Vega]
ICGC DataPortalENSG00000135541
TCGA cBioPortalAHI1
AceView (NCBI)AHI1
Genatlas (Paris)AHI1
WikiGenes54806
SOURCE (Princeton)AHI1
Genetics Home Reference (NIH)AHI1
Genomic and cartography
GoldenPath hg38 (UCSC)AHI1  -     chr6:135283972-135497765 -  6q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AHI1  -     6q23.3   [Description]    (hg19-Feb_2009)
EnsemblAHI1 - 6q23.3 [CytoView hg19]  AHI1 - 6q23.3 [CytoView hg38]
Mapping of homologs : NCBIAHI1 [Mapview hg19]  AHI1 [Mapview hg38]
OMIM608629   608894   
Gene and transcription
Genbank (Entrez)AI300295 AJ459824 AJ459825 AJ606362 AK000076
RefSeq transcript (Entrez)NM_001134830 NM_001134831 NM_001134832 NM_001350503 NM_001350504 NM_017651
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AHI1
Cluster EST : UnigeneHs.386684 [ NCBI ]
CGAP (NCI)Hs.386684
Alternative Splicing GalleryENSG00000135541
Gene ExpressionAHI1 [ NCBI-GEO ]   AHI1 [ EBI - ARRAY_EXPRESS ]   AHI1 [ SEEK ]   AHI1 [ MEM ]
Gene Expression Viewer (FireBrowse)AHI1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54806
GTEX Portal (Tissue expression)AHI1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N157   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N157  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N157
Splice isoforms : SwissVarQ8N157
PhosPhoSitePlusQ8N157
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)SH3_domain    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)SH3_1 (PF00018)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam00018    pfam00400   
Domain families : Smart (EMBL)SH3 (SM00326)  WD40 (SM00320)  
Conserved Domain (NCBI)AHI1
DMDM Disease mutations54806
Blocks (Seattle)AHI1
PDB (SRS)4ESR   
PDB (PDBSum)4ESR   
PDB (IMB)4ESR   
PDB (RSDB)4ESR   
Structural Biology KnowledgeBase4ESR   
SCOP (Structural Classification of Proteins)4ESR   
CATH (Classification of proteins structures)4ESR   
SuperfamilyQ8N157
Human Protein AtlasENSG00000135541
Peptide AtlasQ8N157
HPRD10597
IPIIPI00645678   IPI00165004   IPI00645606   IPI00816531   IPI00973722   IPI01015817   IPI00981855   IPI00015853   IPI00975782   IPI00976444   IPI00980225   IPI00977784   
Protein Interaction databases
DIP (DOE-UCLA)Q8N157
IntAct (EBI)Q8N157
FunCoupENSG00000135541
BioGRIDAHI1
STRING (EMBL)AHI1
ZODIACAHI1
Ontologies - Pathways
QuickGOQ8N157
Ontology : AmiGOmorphogenesis of a polarized epithelium  heart looping  positive regulation of receptor internalization  protein binding  centrosome  centriole  cytosol  cell-cell junction  adherens junction  cilium  cilium  transmembrane receptor protein tyrosine kinase signaling pathway  central nervous system development  retina layer formation  vesicle-mediated transport  positive regulation of polarized epithelial cell differentiation  hindbrain development  cellular protein localization  cloaca development  photoreceptor cell outer segment organization  MKS complex  ciliary basal body  pronephric nephron tubule morphogenesis  pronephric duct morphogenesis  identical protein binding  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  regulation of behavior  cilium assembly  cilium assembly  specification of axis polarity  Kupffer's vesicle development  left/right axis specification  otic vesicle development  ciliary basal body docking  non-motile cilium  
Ontology : EGO-EBImorphogenesis of a polarized epithelium  heart looping  positive regulation of receptor internalization  protein binding  centrosome  centriole  cytosol  cell-cell junction  adherens junction  cilium  cilium  transmembrane receptor protein tyrosine kinase signaling pathway  central nervous system development  retina layer formation  vesicle-mediated transport  positive regulation of polarized epithelial cell differentiation  hindbrain development  cellular protein localization  cloaca development  photoreceptor cell outer segment organization  MKS complex  ciliary basal body  pronephric nephron tubule morphogenesis  pronephric duct morphogenesis  identical protein binding  negative regulation of apoptotic process  positive regulation of transcription from RNA polymerase II promoter  regulation of behavior  cilium assembly  cilium assembly  specification of axis polarity  Kupffer's vesicle development  left/right axis specification  otic vesicle development  ciliary basal body docking  non-motile cilium  
NDEx NetworkAHI1
Atlas of Cancer Signalling NetworkAHI1
Wikipedia pathwaysAHI1
Orthology - Evolution
OrthoDB54806
GeneTree (enSembl)ENSG00000135541
Phylogenetic Trees/Animal Genes : TreeFamAHI1
HOVERGENQ8N157
HOGENOMQ8N157
Homologs : HomoloGeneAHI1
Homology/Alignments : Family Browser (UCSC)AHI1
Gene fusions - Rearrangements
Fusion : MitelmanAHI1/C12orf50 [6q23.3/12q21.32]  
Fusion : MitelmanAHI1/CHEK2 [6q23.3/22q12.1]  [t(6;22)(q23;q12)]  
Fusion : MitelmanAHI1/MYB [6q23.3/6q23.3]  [t(6;6)(q23;q23)]  
Fusion : MitelmanMYB/AHI1 [6q23.3/6q23.3]  [t(6;6)(q23;q23)]  
Fusion: TCGAAHI1 6q23.3 C12orf50 12q21.32 SKCM
Fusion: TCGAAHI1 6q23.3 CHEK2 22q12.1 BRCA
Fusion: TCGAAHI1 6q23.3 MYB 6q23.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAHI1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AHI1
dbVarAHI1
ClinVarAHI1
1000_GenomesAHI1 
Exome Variant ServerAHI1
ExAC (Exome Aggregation Consortium)AHI1 (select the gene name)
Genetic variants : HAPMAP54806
Genomic Variants (DGV)AHI1 [DGVbeta]
DECIPHERAHI1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAHI1 
Mutations
ICGC Data PortalAHI1 
TCGA Data PortalAHI1 
Broad Tumor PortalAHI1
OASIS PortalAHI1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAHI1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAHI1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch AHI1
DgiDB (Drug Gene Interaction Database)AHI1
DoCM (Curated mutations)AHI1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AHI1 (select a term)
intoGenAHI1
Cancer3DAHI1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608629    608894   
Orphanet1022    18916   
MedgenAHI1
Genetic Testing Registry AHI1
NextProtQ8N157 [Medical]
TSGene54806
GENETestsAHI1
Target ValidationAHI1
Huge Navigator AHI1 [HugePedia]
snp3D : Map Gene to Disease54806
BioCentury BCIQAHI1
ClinGenAHI1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54806
Chemical/Pharm GKB GenePA134874587
Clinical trialAHI1
Miscellaneous
canSAR (ICR)AHI1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAHI1
EVEXAHI1
GoPubMedAHI1
iHOPAHI1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:54:38 CEST 2017

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